B4GALT7 (beta-1,4-galactosyltransferase 7)
- symbol:
- B4GALT7
- locus group:
- protein-coding gene
- location:
- 5q35.3
- gene_family:
- Beta 4-glycosyltransferases
- alias symbol:
- XGALT-1|beta4Gal-T7
- alias name:
- galactosyltransferase I
- entrez id:
- 11285
- ensembl gene id:
- ENSG00000027847
- ucsc gene id:
- uc003mhy.4
- refseq accession:
- NM_007255
- hgnc_id:
- HGNC:930
- approved reserved:
- 1999-12-07
B4GALT7（β-1,4-半乳糖基转移酶7）是一种编码糖基转移酶的基因，属于β-1,4-半乳糖基转移酶（B4GALT）基因家族。该家族的主要功能是在糖蛋白和糖脂的生物合成过程中催化半乳糖残基从UDP-半乳糖转移到受体分子（如N-乙酰葡糖胺）上，形成β-1,4-糖苷键。B4GALT7的独特之处在于它主要参与蛋白聚糖（如硫酸乙酰肝素和硫酸软骨素）的糖链合成，特别是在连接木糖和半乳糖的初始步骤中起关键作用。B4GALT7的表达产物在细胞外基质的形成、细胞黏附、信号传导以及组织发育中发挥重要作用。该基因的主要作用位点包括高尔基体，在那里它参与糖链的修饰和延伸。B4GALT7的突变会导致埃勒斯-当洛斯综合征（Ehlers-Danlos syndrome）的伴脊柱后侧凸型（spondylodysplastic type），这是一种结缔组织疾病，表现为皮肤过度伸展、关节活动过度、脊柱侧凸和发育迟缓等症状。突变可能影响酶的活性或稳定性，从而破坏蛋白聚糖的正常合成，进而影响细胞外基质的结构和功能。B4GALT7的过表达可能与某些肿瘤的进展相关，因为异常的糖基化修饰可能促进肿瘤细胞的迁移和侵袭。相反，降低表达可能导致细胞外基质缺陷，影响组织的机械强度和弹性。B4GALT基因家族的共性在于它们都参与糖基化过程，但各成员在底物特异性和组织分布上有所不同。B4GALT7在胚胎发育、伤口愈合和骨骼形成中尤为重要。研究B4GALT7有助于理解糖基化异常相关疾病的机制，并为治疗策略提供潜在靶点。
This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
Gene Ontology
Subcellular localization of B4GALT7 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for B4GALT7:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 532 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate [PATH:hsa00532] |
| 534 Glycosaminoglycan biosynthesis - heparan sulfate / heparin [PATH:hsa00534] |
| Name |
|---|
| A tetrasaccharide linker sequence is required for GAG synthesis |
| Chondroitin sulfate/dermatan sulfate metabolism |
| Glycosaminoglycan metabolism |
| Heparan sulfate/heparin (HS-GAG) metabolism |
| Metabolism |
| Metabolism of carbohydrates |
| Disease | Score | NofPmids | NofSnps | Source |
| EHLERS-DANLOS SYNDROME, PROGEROID FORM | 0.481085767 | 4 | 3 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
| Ehlers-Danlos Syndrome | 0.007891677 | 9 | 1 | BeFree_LHGDN |
| Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Congenital Disorder Of Glycosylation, Type IIID | 0.000271442 | 1 | 0 | BeFree |
| Connective Tissue Diseases | 0.000271442 | 1 | 0 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
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